ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.3163G>A (p.Gly1055Arg)

gnomAD frequency: 0.00001  dbSNP: rs1484399991
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000656097 SCV000598596 uncertain significance X-linked complicated corpus callosum dysgenesis 2017-09-01 criteria provided, single submitter research this variant was indentified in an individual with malformations of cortical development
Labcorp Genetics (formerly Invitae), Labcorp RCV002524421 SCV003025363 benign Spastic paraplegia 2023-09-08 criteria provided, single submitter clinical testing

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